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Scholar Results 1 - 10 of about 42 citing Simon: Molecular analysis of the mevalonate kinase gene in a cohort of patients with the.... (0.09 sec) 

First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmu- …


L Obici, C Manno, AO Muda, P Picco, A D' … - Arthritis Care & Research - interscience.wiley.com
Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe
complication of most hereditary periodic fever syndromes. The risk of developing
this life-threatening condition varies widely among these disorders, being ...
Cited by 31 - Related articles - BL Direct - All 5 versions

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, …


C Masson, V Simon, E Hoppé, P Insalaco, I … - Joint Bone Spine, 2004 - Elsevier
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an
autosomal dominant inherited condition of periodic fever and pain. Most patients
are of northern European descent. The attacks manifest as fever and pain in ...
Cited by 26 - Related articles - All 3 versions

Overt and occult rheumatic diseases: the child with chronic fever


J Frenkel, W Kuis - Best Practice & Research Clinical Rheumatology, 2002 - Elsevier
Identification of the genes involved in hereditary periodic fever syndromes has
led to the recognition of a new pathophysiological category, the
autoinflammatory disorders. The main non-hereditary autoinflammatory ...
Cited by 26 - Related articles - BL Direct - All 10 versions

Carrier frequency of the V377I (1129G> A) MVK mutation, associated with Hyper-IgD and …


SM Houten, CS van Woerden, FA Wijburg, … - European Journal of Human Genetics, 2003 - nature.com
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria (MA) are two
autosomal recessive disorders that both are caused by a deficient activity of
the enzyme mevalonate kinase (MK) due to mutations in the encoding gene ...
Cited by 23 - Related articles - All 2 versions

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation …


S Stojanov, P Lohse, P Lohse, F Hoffmann, ED … - Arthritis Care & Research - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ...
Cited by 22 - Related articles - BL Direct - All 3 versions

XOL-1, primary determinant of sexual fate in C. elegans, is a GHMP kinase family member and …

- nih.gov
JG Luz, CA Hassig, C Pickle, A Godzik, BJ … - Science's STKE, 2003 - stke.sciencemag.org
In Caenorhabditis elegans, an X chromosome-counting mechanism specifies sexual
fate. Specific genes termed X-signal elements, which are present on the X
chromosome, act in a concerted dose-dependent fashion to regulate levels of ...
Cited by 24 - Related articles - BL Direct - All 10 versions

Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal …


FT Saulsbury - The Journal of pediatrics, 2003 - Elsevier
This report describes a boy with hyperimmunoglobulinemia D and periodic fever
syndrome (HIDS). The serum IgD level was normal, but the serum IgA concentration
was markedly elevated. In addition, he had a history of orchitis on two ...
Cited by 19 - Related articles - All 11 versions

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

- hids.net [PDF] 
A Simon, EC Mariman, JWM van der Meer, … - The American journal of medicine, 2003 - Elsevier
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; Mendelian
Inheritance in Man [MIM] 260920) is an autosomal, recessively inherited disorder
characterized by recurrent episodes of fever, abdominal distress, ...
Cited by 18 - Related articles - All 11 versions

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

- oxfordjournals.org
A Simon, JWM Van der Meer, R Vesely, U … - Rheumatology, 2006 - Br Soc Rheumatology
Division of 1 General Internal Medicine and 2 Gastroenterology and Hepatology,
Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen,
The Netherlands, 3 Department of Pediatrics, Faculty Hospital, Kosice, ...
Cited by 15 - Related articles - BL Direct - All 9 versions

Mutations in NALP12 cause hereditary periodic fever syndromes

- pnas.org
I Jéru, P Duquesnoy, T Fernandes-Alnemri, E … - Proceedings of the National Academy of Sciences, 2008 - National Acad Sciences
NALP proteins, also known as NLRPs, belong to the CATERPILLER protein family
involved, like Toll-like receptors, in the recognition of microbial molecules
and the subsequent activation of inflammatory and immune responses. Current ...
Cited by 14 - Related articles - BL Direct - All 7 versions


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